{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:11:23Z","timestamp":1777522283084,"version":"3.51.4"},"reference-count":21,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2012,3,1]],"date-time":"2012-03-01T00:00:00Z","timestamp":1330560000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p>Mutations in TBX22 are known causes of cleft palate with\/without ankyloglossia. We identified a hemizygous missense C.452G&gt;T (p.Arg151Leu) mutation in a Thai boy who had unilateral complete cleft lip and palate, agenesis of a maxillary second premolar, ankyloglossia, hypoplastic carpal bones, and hypoplastic right thumb. Our study has demonstrated that TBX22 mutation is associated not only with cleft palate and ankyloglossia, but also cleft lip and palate and tooth agenesis. Phenotypic variability caused by a single nucleotide substitution is clearly demonstrated.<\/jats:p>","DOI":"10.1597\/10-208","type":"journal-article","created":{"date-parts":[[2011,3,4]],"date-time":"2011-03-04T23:20:12Z","timestamp":1299280812000},"page":"240-244","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["<i>TBX22<\/i>\n                    Mutation Associated with Cleft Lip\/Palate, Hypodontia, and Limb Anomaly"],"prefix":"10.1177","volume":"49","author":[{"given":"Arunee","family":"Kaewkhampa","sequence":"first","affiliation":[{"name":"Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhirawat","family":"Jotikasthira","sequence":"additional","affiliation":[{"name":"Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sutti","family":"Malaivijitnond","sequence":"additional","affiliation":[{"name":"Dental Department of Nan Hospital, Nan, Thailand."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piranit","family":"Kantaputra","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2012,3,1]]},"reference":[{"key":"bibr1-10-208","doi-asserted-by":"publisher","DOI":"10.1086\/521033"},{"key":"bibr2-10-208","doi-asserted-by":"publisher","DOI":"10.1038\/ng730"},{"key":"bibr3-10-208","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.22.2793"},{"key":"bibr4-10-208","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2007.06.007"},{"key":"bibr5-10-208","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200501000-00005"},{"key":"bibr6-10-208","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(02)00196-X"},{"key":"bibr7-10-208","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22182"},{"key":"bibr8-10-208","first-page":"277","volume":"1","author":"Kantaputra P.N.","year":"2004","journal-title":"Oral Biosci Med."},{"key":"bibr9-10-208","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510391052"},{"key":"bibr10-10-208","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10276"},{"key":"bibr11-10-208","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.010868"},{"key":"bibr12-10-208","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp444"},{"key":"bibr13-10-208","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60695-4"},{"key":"bibr14-10-208","doi-asserted-by":"publisher","DOI":"10.1038\/39929"},{"key":"bibr15-10-208","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp368"},{"key":"bibr16-10-208","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066902"},{"key":"bibr17-10-208","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2007.09.002"},{"key":"bibr18-10-208","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199801293380611"},{"key":"bibr19-10-208","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh052"},{"key":"bibr20-10-208","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00891.x"},{"key":"bibr21-10-208","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-169x.2001.00556.x"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/10-208","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1597\/10-208","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1597\/10-208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:16:57Z","timestamp":1777393017000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1597\/10-208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,3]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1597\/10-208"],"URL":"https:\/\/doi.org\/10.1597\/10-208","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,3]]}}}